Canonical Allele Identifier: CA841946305

Gene: COL28A1

Linked Data

• dbSNP Id: rs1304793710
• MyVariant Identifiers: chr7:g.7399297_7399305del (hg19) ; chr7:g.7359666_7359674del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7359669_7359677del , CM000669.2:g.7359669_7359677del	GRCh38
NC_000007.13:g.7399300_7399308del , CM000669.1:g.7399300_7399308del	GRCh37
NC_000007.12:g.7365825_7365833del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000399429.8:c.3205+716_3205+724del MANE Select	ENSP00000382356.3:n.3205+716_3205+724del
ENST00000399429.7:c.3205+716_3205+724del	ENSP00000382356.3:n.3205+716_3205+724del
ENST00000430711.5:c.256+716_256+724del	ENSP00000413093.1:n.256+716_256+724del
ENST00000453441.1:c.70+716_70+724del	ENSP00000391380.1:n.70+716_70+724del
NM_001037763.2:c.3205+716_3205+724del	NP_001032852.2:n.3205+716_3205+724del
XM_011515358.1:c.3205+716_3205+724del	XP_011513660.1:n.3205+716_3205+724del
XM_011515359.1:c.3205+716_3205+724del	XP_011513661.1:n.3205+716_3205+724del
XM_011515360.1:c.3205+716_3205+724del	XP_011513662.1:n.3205+716_3205+724del
XM_011515362.1:c.2056+716_2056+724del	XP_011513664.1:n.2056+716_2056+724del
XR_926936.1:n.3408+716_3408+724del
XM_011515358.3:c.3205+716_3205+724del	XP_011513660.1:n.3205+716_3205+724del
XM_011515359.2:c.3205+716_3205+724del	XP_011513661.1:n.3205+716_3205+724del
XM_011515360.2:c.3205+716_3205+724del	XP_011513662.1:n.3205+716_3205+724del
XM_011515362.2:c.2056+716_2056+724del	XP_011513664.1:n.2056+716_2056+724del
XM_017012131.2:c.3205+716_3205+724del	XP_016867620.1:n.3205+716_3205+724del
XM_017012132.2:c.3205+716_3205+724del	XP_016867621.1:n.3205+716_3205+724del
XR_001744688.1:n.4831+716_4831+724del
XR_926936.3:n.4607+716_4607+724del
NM_001037763.3:c.3205+716_3205+724del MANE Select	NP_001032852.2:n.3205+716_3205+724del